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Congenital Absence of the Vas Deferens

Cavd Cong Aplasia of Vas Def


Presentation

  • In conclusion, URA/CBAVD occurred in 10% of presenting CBAVD males at this institution.[humrep.oxfordjournals.org]
  • We present a rare case of a patient with bilateral absence of the vas deferens found to have a "cake" or "lump" kidney with fused collecting systems drained by a single ureter.[ncbi.nlm.nih.gov]
Asthmatic Bronchitis
  • All 40 individuals were pancreatic sufficient, but twenty patients had recurrent or sporadic respiratory infections, asthma/asthmatic bronchitis, and/or rhino-sinusitis.[ncbi.nlm.nih.gov]
Sputum
  • […] for a panel of 16 mutations plus the intron 8 5-thymidine allele of the CF gene (5T), and underwent a thorough clinical evaluation which included a detailed anamnesis, anthropometric data, chest and paranasal sinuses X-rays, pulmonary function tests, sputum[ncbi.nlm.nih.gov]
Sighing
  • What a huge sigh of relief for Chris and me. Every bit of positive information about our son makes me feel more confident and secure in this pregnancy. Putrid grape-flavored lozenge I’m just going to start off by saying, “YUCK.”[meetthehopefuls.com]
Fear
  • Every milestone helps me to overcome the tormenting fears of the past. Our hearts are overflowing with the gratitude that this pregnancy is going smoothly.[meetthehopefuls.com]

Treatment

  • Microfertilization treatment resulted in a singleton pregnancy; the child has since been born. Treatment of couples involving men with surgically unreconstructible obstruction is now possible.[ncbi.nlm.nih.gov]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

Prognosis

  • Treatment and prognosis Patients with primary testicular failure (non-obstructive azoospermia) benefit from intracytoplasmic sperm injection. Obstructive azoospermia patients benefit from surgical correction such as vasoepididymostomy.[radiopaedia.org]
  • (Outcome/Resolutions) The prognosis of Congenital Bilateral Absence of Vas Deferens, in a majority of individuals, depends upon the severity of cystic fibrosis.[dovemed.com]
  • Although the prognosis for sperm retrieval is poor for patients with large deletions involving AZF region a or b, the results of Y chromosome deletion analysis cannot absolutely predict the absence of sperm. References 1.[auanet.org]

Etiology

  • CONCLUSIONS: These data showed that the CFTR mutations but not the IVS8-Tn polymorphism are involved in CBAVD etiology in a Mexican population.[ncbi.nlm.nih.gov]
  • Etiology of Vas Deferens Aplasia Mutations of the CFTR: Mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) lead to a bilateral absence of the seminal vesicles and/or vasa deferentes.[urology-textbook.com]
  • Based on these findings one can assume that there are two distinct subpopulations of CUAVD patients with different genetic and etiological backgrounds [ 5 , 7 ]: The first subgroup comprises patients with heterozygous mutations in the CFTR gene as the[omicsonline.org]
  • Testicular etiologies (primary testicular failure) involve disorders of spermatogenesis intrinsic to the testes.[auanet.org]

Epidemiology

  • […] bilateral, it may be associated with absence of the seminal vesicles or with abnormalities of the urinary tract (Tüttelmann et al, 2008): Congenital unilateral absence of the vas deferens (CUAVD) Congenital bilateral absence of the vas deferens (CBAVD) Epidemiology[urology-textbook.com]
  • Bozhedomov VA, Teodorovich OV (2005) [Epidemiology and causes of autoimmune male infertility]. Urologiia 1:35–44 PubMed Google Scholar 76. Kendirci M, Hellstrom WJ (2006) Antisperm antibodies and varicocele.[link.springer.com]
Sex distribution
Age distribution

Pathophysiology

  • Taking the above mentioned pathophysiologic mechanisms and clinical features of the disease into consideration, all patients with a newly diagnosed CUAVD should undergo imaging of the upper urinary tract-primarily by sonography.[omicsonline.org]
  • Authors’ Affiliations (1) Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang, 315211, China (2) China National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices[jclinbioinformatics.biomedcentral.com]
  • Since CF gene anomalies are not generally present in this second subset, the pathophysiology of men with these combined abnormalities may not be part of the CF mutation spectrum but may represent a different, discrete clinical and genetic entity.[humrep.oxfordjournals.org]

Prevention

  • Recognition could prevent unnecessary surgery and prompt providers to investigate for associated abnormalities. Keywords: vas deferens, embryology, abnormalities, surgery This work is published and licensed by Dove Medical Press Limited.[dovepress.com]
  • Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes.[ghr.nlm.nih.gov]
  • This defect, called congenital absence of the vas deferens (CBAVD), 1 prevents transport of spermatozoa from the testes or epididymis to the penis, resulting in azoospermia.[cftr.info]
  • Currently, there are no specific methods or guidelines to prevent Congenital Bilateral Absence of Vas Deferens, since it is a genetic condition Genetic testing of the expecting parents (and related family members), as well as prenatal diagnosis (molecular[dovemed.com]

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